HsaEX0046542 @ hg38
Exon Skipping
Gene
ENSG00000187800 | PEAR1
Description
platelet endothelial aggregation receptor 1 [Source:HGNC Symbol;Acc:HGNC:33631]
Coordinates
chr1:156903918-156905424:+
Coord C1 exon
chr1:156903918-156904027
Coord A exon
chr1:156904944-156904998
Coord C2 exon
chr1:156905324-156905424
Length
55 bp
Sequences
Splice sites
3' ss Seq
TGTACCTGTTCACTTCTCAGAAA
3' ss Score
8.3
5' ss Seq
CGGGTACGT
5' ss Score
9.5
Exon sequences
Seq C1 exon
GCCTCTGCAATGTCACCGCCTCTGTGTCCCCTCCTTCTCCTGGCTGTGGGCCTGCGGCTGGCTGGAACTCTCAACCCCAGTGATCCCAATACCTGCAGCTTCTGGGAAAG
Seq A exon
AAACTCAGAGGAAACTCCTGGCTTCTAGGGATTCATTCTGCATGGTCTGTGTCGG
Seq C2 exon
GGTTGTATACCGGACCGTGTACCGTCAGGTGGTGAAGACGGACCACCGCCAGCGCCTGCAGTGCTGCCATGGCTTCTATGAGAGCAGGGGGTTCTGTGTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187800-'4-12,'4-9,6-12=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
PF075468=EMI=PU(18.0=26.5)
A:
PF075468=EMI=PD(10.0=50.0)
C2:
PF075468=EMI=PD(39.2=82.9)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTCAACCCCAGTGATCCCA
R:
CCCCTGCTCTCATAGAAGCCA
Band lengths:
133-188
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development